Variant report

Variant	rs10466331
Chromosome Location	chr11:93231137-93231138
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93226135..93229081-chr11:93229518..93231367,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10466332	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10466333	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11020370	0.84[EUR][1000 genomes]
rs11020379	0.95[CHB][hapmap]
rs11020392	0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12289103	0.88[ASN][1000 genomes]
rs13343173	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2605607	0.80[ASN][1000 genomes]
rs2605609	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2605610	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs56240121	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58336329	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6483245	0.83[EUR][1000 genomes]
rs7106781	0.86[EUR][1000 genomes]
rs7127294	0.83[EUR][1000 genomes]
rs7950036	0.81[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv522568	chr11:93231137-93239907	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10466331	C11orf54	cis	parietal	SCAN
rs10466331	FAT3	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93207000-93239000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:93210600-93231600	Weak transcription	A549	lung
5	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
6	chr11:93211600-93243800	Weak transcription	Fetal Thymus	thymus
7	chr11:93212200-93234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:93214800-93234400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
10	chr11:93218800-93231800	Weak transcription	Ovary	ovary
11	chr11:93218800-93238200	Weak transcription	Esophagus	oesophagus
12	chr11:93218800-93245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:93220600-93232000	Weak transcription	Left Ventricle	heart
14	chr11:93220800-93235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:93222000-93231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:93222200-93232000	Weak transcription	Spleen	Spleen
17	chr11:93222400-93238000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:93222800-93231800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:93222800-93236000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:93223000-93242800	Weak transcription	Adipose Nuclei	Adipose
21	chr11:93225400-93242800	Weak transcription	GM12878-XiMat	blood
22	chr11:93225600-93231800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:93225600-93248800	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:93225800-93232800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:93226000-93235000	Weak transcription	Small Intestine	intestine
26	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:93226600-93238000	Weak transcription	Fetal Lung	lung
28	chr11:93226800-93233600	Weak transcription	Stomach Mucosa	stomach
29	chr11:93227000-93231600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:93227000-93234600	Weak transcription	Gastric	stomach
31	chr11:93227000-93243800	Weak transcription	Lung	lung
32	chr11:93227200-93231600	Weak transcription	Aorta	Aorta
33	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:93227400-93239800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:93227600-93232800	Strong transcription	Fetal Stomach	stomach
36	chr11:93227800-93231600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:93227800-93235000	Weak transcription	Pancreas	Pancrea
38	chr11:93228200-93234000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:93228200-93243400	Weak transcription	Right Ventricle	heart
40	chr11:93228200-93248200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:93228400-93231400	Weak transcription	NH-A	brain
42	chr11:93228400-93231600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:93228400-93231600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:93228400-93231600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:93228400-93231600	Weak transcription	HSMMtube	muscle
46	chr11:93228400-93235000	Weak transcription	HepG2	liver
47	chr11:93228400-93237800	Weak transcription	Osteobl	bone
48	chr11:93228600-93231600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:93229200-93232600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:93229800-93231200	Weak transcription	NHDF-Ad	bronchial

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